Early and lethal neurodegeneration with myasthenic and myopathic features A new ALG14-CDG

Schorling David C.; Rost Simone; Lefeber Dirk J.Brady LaurenMueller Clemens R.Korinthenberg RudolfTarnopolsky MarkBonnemann Carsten G.Rodenburg Richard J.Bugiani MariannaBeytia MariaKruger Marcusvan der Knaap MarjoKirschner Jan

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Early and lethal neurodegeneration with myasthenic and myopathic features A new ALG14-CDG

机译：早期,与肌无力的致命的神经退化一个新的ALG14-CDG和肌痛功能

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Objective: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features.

机译：目的:描述表示和确定一个新的临床表型的原因,特点是早期严重退化肌痛和肌无力的特性。

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来源
《Neurology: Official Journal of the American Academy of Neurology》 |2017年第7期|657-664|共8页
作者
Schorling David C.; Rost Simone; Lefeber Dirk J.Brady LaurenMueller Clemens R.Korinthenberg RudolfTarnopolsky MarkBonnemann Carsten G.Rodenburg Richard J.Bugiani MariannaBeytia MariaKruger Marcusvan der Knaap MarjoKirschner Jan;
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作者单位

Univ Freiburg, Div Neuropaediat & Muscle Disorders, Fac Med, Med Ctr, Freiburg, Germany;

Univ Freiburg, Fac Med, Med Ctr, Ctr Pediat & Adolescent Med, Freiburg, Germany;

Radboud Univ Nijmegen, Med Ctr, Radboud Ctr Mitochondrial Med, Dept Pediat, Nijmegen, NetherlandsRadboud Univ Nijmegen, Med Ctr, Dept Neurol, Translat Metab Lab,Donders Inst Brain Cognit & BeUniv Wurzburg, Biozentrum, Dept Human Genet, Wurzburg, GermanyMcMaster Childrens Hosp, Dept Pediat Neuromuscular & Neurometabol Disorder, Hamilton, ON, CanadaVrije Univ Amsterdam, Med Ctr, Dept Child Neurol, Amsterdam, NetherlandsNINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892;

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原文格式 PDF
正文语种英语
中图分类神经病学;
关键词
Phenotype; Nerve Degeneration; presentation;

机译：表型;神经变性;演示;

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Early and lethal neurodegeneration with myasthenic and myopathic features A new ALG14-CDG

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